Neuronal Ceroid Lipofuscinosis 8 (English Setter Type)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

CLN8, transmembrane ER and ERGIC protein (CLN8) on Chromosome 37

Variant Detected:

Base Substitution c.491C>T p.Leu164Pro

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Katz ML, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. (2005) Biochem Biophys Res Com, 327;541-547.

Associated Breed(s):

English Setter , Gordon Setter , Irish Setter, Mixed Breed,